List of variants in gene PAX3 studied for obsolete rare genetic deafness

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000002.12:g.(?_222201051)_(222295679_?)del
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)	rs777297575
NM_181458.4(PAX3):c.668G>A (p.Arg223Gln)	rs876657717
NM_181458.4(PAX3):c.873dup (p.Gly292fs)	rs1553572976
NM_181458.4(PAX3):c.879dup (p.Phe294fs)	rs1553572967

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